PLIN1 — 182 ClinVar variants
All ClinVar germline PLIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
5 Pathogenic · 3 Likely pathogenic · 5 Conflicting · 25 Benign · 4 Benign/Likely benign · 30 Likely benign · 110 Uncertain significance
Full PLIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- PLIN1 p.Ala336Val Conflicting Single submitter
-
PLIN1 p.Ala380Val
Conflicting
Single submitter
monogenic diabetes
-
PLIN1 p.Glu427Gly
Conflicting
Single submitter
PLIN1-related familial partial lipodystrophy
-
PLIN1 p.Thr301Met
Conflicting
Single submitter
PLIN1-related familial partial lipodystrophy
Predictors lean, ClinVar uncertain 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLIN1 p.Arg125Cys Uncertain significance Multiple submitters
-
PLIN1 p.Glu151Lys
Uncertain significance
Multiple submitters
PLIN1-related disorder
-
PLIN1 p.Leu90Pro
Uncertain significance
Multiple submitters
PLIN1-related familial partial lipodystrophy
-
PLIN1 p.Thr345Ala
Uncertain significance
Multiple submitters
PLIN1-related familial partial lipodystrophy
- PLIN1 p.Ala136Thr Uncertain significance Single submitter
- PLIN1 p.Ala148Asp Uncertain significance Single submitter
- PLIN1 p.Ala161Thr Uncertain significance Single submitter
- PLIN1 p.Ala353Val Uncertain significance Single submitter
- PLIN1 p.Ala372Thr Uncertain significance Single submitter
- PLIN1 p.Ala380Thr Uncertain significance Single submitter
- PLIN1 p.Ala478Thr Uncertain significance Single submitter
- PLIN1 p.Arg123Cys Uncertain significance Single submitter
- PLIN1 p.Arg168Gln Uncertain significance Single submitter
- PLIN1 p.Arg171Gln Uncertain significance Single submitter
- PLIN1 p.Arg239Gln Uncertain significance Single submitter
- PLIN1 p.Arg275Gln Uncertain significance Single submitter
- PLIN1 p.Arg275Gly Uncertain significance Single submitter
- PLIN1 p.Arg275Trp Uncertain significance Single submitter
- PLIN1 p.Arg363Ser Uncertain significance Single submitter
- PLIN1 p.Arg379Lys Uncertain significance Single submitter
- PLIN1 p.Arg428Ser Uncertain significance Single submitter
- PLIN1 p.Arg429Pro Uncertain significance Single submitter
- PLIN1 p.Arg512Leu Uncertain significance Single submitter
- PLIN1 p.Arg519Leu Uncertain significance Single submitter
- PLIN1 p.Arg519Pro Uncertain significance Single submitter
- PLIN1 p.Arg93Gln Uncertain significance Single submitter
- PLIN1 p.Asp11Ala Uncertain significance Single submitter
- PLIN1 p.Asp178Asn Uncertain significance Single submitter
- PLIN1 p.Asp294Ala Uncertain significance Single submitter
- PLIN1 p.Asp294Glu Uncertain significance Single submitter
- PLIN1 p.Asp300His Uncertain significance Single submitter
- PLIN1 p.Asp385Gly Uncertain significance Single submitter
- PLIN1 p.Gln517Pro Uncertain significance Single submitter
- PLIN1 p.Glu278Lys Uncertain significance Single submitter
- PLIN1 p.Glu315Gln Uncertain significance Single submitter
- PLIN1 p.Glu430Gln Uncertain significance Single submitter
- PLIN1 p.Glu99Gly Uncertain significance Single submitter
- PLIN1 p.Glu99Lys Uncertain significance Single submitter
- PLIN1 p.Gly155Glu Uncertain significance Single submitter
- PLIN1 p.Gly175Arg Uncertain significance Single submitter
- PLIN1 p.Gly303Ala Uncertain significance Single submitter
- PLIN1 p.Gly303Glu Uncertain significance Single submitter
- PLIN1 p.Gly389Ser Uncertain significance Single submitter
- PLIN1 p.Gly483Asp Uncertain significance Single submitter
- PLIN1 p.Gly6Cys Uncertain significance Single submitter
- PLIN1 p.His366Tyr Uncertain significance Single submitter
- PLIN1 p.Ile112Val Uncertain significance Single submitter
-
PLIN1 p.Ile120Val
Uncertain significance
Single submitter
PLIN1-related familial partial lipodystrophy
- PLIN1 p.Ile419Ser Uncertain significance Single submitter
- PLIN1 p.Leu191Val Uncertain significance Single submitter
-
PLIN1 p.Leu331Phe
Uncertain significance
Single submitter
monogenic diabetes
- PLIN1 p.Leu343Phe Uncertain significance Single submitter
- PLIN1 p.Lys215Arg Uncertain significance Single submitter
-
PLIN1 p.Lys520Arg
Uncertain significance
Single submitter
PLIN1-related familial partial lipodystrophy
- PLIN1 p.Lys521Gln Uncertain significance Single submitter
- PLIN1 p.Lys5Glu Uncertain significance Single submitter
- PLIN1 p.Met237Ile Uncertain significance Single submitter
- PLIN1 p.Met381Lys Uncertain significance Single submitter
- PLIN1 p.Met506Thr Uncertain significance Single submitter
- PLIN1 p.Pro109Thr Uncertain significance Single submitter
- PLIN1 p.Pro256His Uncertain significance Single submitter
- PLIN1 p.Pro369Ala Uncertain significance Single submitter
- PLIN1 p.Pro371Ser Uncertain significance Single submitter
- PLIN1 p.Pro480Leu Uncertain significance Single submitter
- PLIN1 p.Pro503Ser Uncertain significance Single submitter
- PLIN1 p.Ser114Ala Uncertain significance Single submitter
- PLIN1 p.Ser174Tyr Uncertain significance Single submitter
- PLIN1 p.Ser217Arg Uncertain significance Single submitter
- PLIN1 p.Ser273Phe Uncertain significance Single submitter
- PLIN1 p.Ser374Phe Uncertain significance Single submitter
- PLIN1 p.Thr301Ala Uncertain significance Single submitter
- PLIN1 p.Thr306Ala Uncertain significance Single submitter
- PLIN1 p.Thr346Ala Uncertain significance Single submitter
- PLIN1 p.Thr376Ser Uncertain significance Single submitter
- PLIN1 p.Trp154Arg Uncertain significance Single submitter
- PLIN1 p.Tyr401Phe Uncertain significance Single submitter
- PLIN1 p.Val188Leu Uncertain significance Single submitter
- PLIN1 p.Val254Met Uncertain significance Single submitter
- PLIN1 p.Val390Ile Uncertain significance Single submitter
- PLIN1 p.Val394Met Uncertain significance Single submitter
-
PLIN1 p.Cys150Trp
Uncertain significance
No assertion criteria
PLIN1-related disorder
Predictors split 13
The independent predictors disagree with each other — read with care.
- PLIN1 p.Ala361Glu Uncertain significance Multiple submitters
- PLIN1 p.Leu404Phe Uncertain significance Multiple submitters
- PLIN1 p.Cys150Arg Uncertain significance Single submitter
- PLIN1 p.Glu411Lys Uncertain significance Single submitter
- PLIN1 p.Gly176Glu Uncertain significance Single submitter
- PLIN1 p.Leu383Pro Uncertain significance Single submitter
-
PLIN1 p.Phe501Leu
Uncertain significance
Single submitter
PLIN1-related familial partial lipodystrophy
- PLIN1 p.Pro109Ala Uncertain significance Single submitter
- PLIN1 p.Pro109Leu Uncertain significance Single submitter
- PLIN1 p.Thr138Ile Uncertain significance Single submitter
- PLIN1 p.Thr226Pro Uncertain significance Single submitter
- PLIN1 p.Tyr401Ser Uncertain significance Single submitter
- PLIN1 p.Val402Met Uncertain significance Single submitter
All PLIN1 variants
Pathogenic 5
- c.1210-1del Single submitter PLIN1-related familial partial lipodystrophy
- c.1210-1G>T No assertion criteria PLIN1-related familial partial lipodystrophy
- p.Pro439fs No assertion criteria PLIN1-related familial partial lipodystrophy
- p.Val398fs No assertion criteria PLIN1-related familial partial lipodystrophy
- p.Val402fs No assertion criteria PLIN1-related familial partial lipodystrophy
Likely pathogenic 3
- p.Arg379Ter Single submitter PLIN1-related disorder
- p.Arg93Ter Single submitter PLIN1-related familial partial lipodystrophy
- p.Leu68fs Single submitter PLIN1-related familial partial lipodystrophy
Conflicting classifications of pathogenicity 5
- p.Ala336Val Single submitter ⚠
- p.Ala380Val Single submitter monogenic diabetes ⚠
- p.Arg429_Glu430insArg Single submitter PLIN1-related familial partial lipodystrophy
- p.Glu427Gly Single submitter PLIN1-related familial partial lipodystrophy ⚠
- p.Thr301Met Single submitter PLIN1-related familial partial lipodystrophy ⚠
Benign 25
- c.1209+9C>T Multiple submitters
- c.251-153G>T Multiple submitters
- c.333+50C>T Multiple submitters
- c.45+274A>G Multiple submitters
- c.598+77A>T Multiple submitters
- c.771+119G>C Multiple submitters
- c.772-23T>A Multiple submitters PLIN1-related familial partial lipodystrophy
- c.964-25G>T Multiple submitters
- c.964-72C>A Multiple submitters
- c.-14-274A>C Multiple submitters
- p.Ala271Val Multiple submitters monogenic diabetes
- p.Arg231Leu Multiple submitters monogenic diabetes
- p.Phe416= Multiple submitters
- p.Pro194Ala Multiple submitters PLIN1-related familial partial lipodystrophy
- p.Pro371= Multiple submitters PLIN1-related familial partial lipodystrophy
- p.Ser348Leu Multiple submitters monogenic diabetes
- p.Val156Leu Multiple submitters monogenic diabetes
- p.Val373= Multiple submitters PLIN1-related familial partial lipodystrophy
- c.45+294C>A Single submitter
- c.46-145A>C Single submitter
- c.46-8C>T Single submitter
- c.772-104C>T Single submitter
- c.772-147A>C Single submitter
- c.772-151del Single submitter
- c.-14-139C>T Single submitter
Benign/Likely benign 4
- p.Ala464= Multiple submitters
- p.Asn393= Multiple submitters
- p.Thr138= Multiple submitters
- p.Val272Met Multiple submitters monogenic diabetes
Likely benign 30
- c.333+20C>T Single submitter
- c.45+20C>T Single submitter
- c.598+11T>C Single submitter
- p.Ala136= Single submitter
- p.Ala177= Single submitter
- p.Ala208= Single submitter
- p.Ala288Thr Single submitter
- p.Arg239Trp Single submitter
- p.Arg274Trp Single submitter
- p.Arg280Trp Single submitter monogenic diabetes
- p.Arg489Cys Single submitter
- p.Gly12= Single submitter
- p.Gly155= Single submitter
- p.Gly327= Single submitter
- p.Gly389= Single submitter
- p.Gly483Ala Single submitter
- p.Ile419= Single submitter
- p.Leu331= Single submitter
- p.Pro103= Single submitter
- p.Pro412= Single submitter
- p.Ser277= Single submitter
- p.Thr368= Single submitter
- p.Thr476fs Single submitter
- p.Thr85= Single submitter
- p.Val133Ile Single submitter
- p.Val364Met Single submitter
- p.Val402= Single submitter
- c.-5C>T No assertion criteria PLIN1-related disorder
- p.Arg275= No assertion criteria PLIN1-related disorder
- p.Gly330= No assertion criteria
Uncertain significance 110
- p.Ala361Glu Multiple submitters ⚠
- p.Arg125Cys Multiple submitters ⚠
- p.Glu151Lys Multiple submitters PLIN1-related disorder ⚠
- p.Leu404Phe Multiple submitters ⚠
- p.Leu90Pro Multiple submitters PLIN1-related familial partial lipodystrophy ⚠
- p.Thr345Ala Multiple submitters PLIN1-related familial partial lipodystrophy ⚠
- c.771+6T>C Single submitter
- c.964-1G>A Single submitter monogenic diabetes
- c.964-1G>C Single submitter PLIN1-related familial partial lipodystrophy
- p.Ala136Thr Single submitter ⚠
- p.Ala148Asp Single submitter ⚠
- p.Ala161Thr Single submitter ⚠
- p.Ala353Val Single submitter ⚠
- p.Ala372Thr Single submitter ⚠
- p.Ala380Thr Single submitter ⚠
- p.Ala478Thr Single submitter ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg168Ter Single submitter PLIN1-related familial partial lipodystrophy
- p.Arg171Gln Single submitter ⚠
- p.Arg231fs Single submitter
- p.Arg231Ter Single submitter PLIN1-related familial partial lipodystrophy
- p.Arg239Gln Single submitter ⚠
- p.Arg275Gln Single submitter ⚠
- p.Arg275Gly Single submitter ⚠
- p.Arg275Trp Single submitter ⚠
- p.Arg363Ser Single submitter ⚠
- p.Arg379Lys Single submitter ⚠
- p.Arg428Ser Single submitter ⚠
- p.Arg429Pro Single submitter ⚠
- p.Arg512Leu Single submitter ⚠
- p.Arg519Leu Single submitter ⚠
- p.Arg519Pro Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Asn88Asp Single submitter
- p.Asp11Ala Single submitter ⚠
- p.Asp178Asn Single submitter ⚠
- p.Asp294Ala Single submitter ⚠
- p.Asp294Glu Single submitter ⚠
- p.Asp300His Single submitter ⚠
- p.Asp385Gly Single submitter ⚠
- p.Cys150Arg Single submitter ⚠
- p.Gln517Pro Single submitter ⚠
- p.Glu278Lys Single submitter ⚠
- p.Glu315Gln Single submitter ⚠
- p.Glu411Lys Single submitter ⚠
- p.Glu430Gln Single submitter ⚠
- p.Glu99Gly Single submitter ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly155Glu Single submitter ⚠
- p.Gly175Arg Single submitter ⚠
- p.Gly176Glu Single submitter ⚠
- p.Gly303Ala Single submitter ⚠
- p.Gly303Glu Single submitter ⚠
- p.Gly378_Arg379insTer Single submitter
- p.Gly389Ser Single submitter ⚠
- p.Gly469fs Single submitter
- p.Gly483Asp Single submitter ⚠
- p.Gly6Cys Single submitter ⚠
- p.His366Tyr Single submitter ⚠
- p.Ile112fs Single submitter
- p.Ile112Val Single submitter ⚠
- p.Ile120Val Single submitter PLIN1-related familial partial lipodystrophy ⚠
- p.Ile419Ser Single submitter ⚠
- p.Leu191Val Single submitter ⚠
- p.Leu257fs Single submitter
- p.Leu325= Single submitter
- p.Leu331Phe Single submitter monogenic diabetes ⚠
- p.Leu343Phe Single submitter ⚠
- p.Leu383Pro Single submitter ⚠
- p.Lys215Arg Single submitter ⚠
- p.Lys520Arg Single submitter PLIN1-related familial partial lipodystrophy ⚠
- p.Lys521Gln Single submitter ⚠
- p.Lys5Glu Single submitter ⚠
- p.Met237Ile Single submitter ⚠
- p.Met381Lys Single submitter ⚠
- p.Met506Thr Single submitter ⚠
- p.Phe501Leu Single submitter PLIN1-related familial partial lipodystrophy ⚠
- p.Pro109Ala Single submitter ⚠
- p.Pro109Leu Single submitter ⚠
- p.Pro109Thr Single submitter ⚠
- p.Pro256His Single submitter ⚠
- p.Pro369Ala Single submitter ⚠
- p.Pro371Ser Single submitter ⚠
- p.Pro405= Single submitter
- p.Pro480Leu Single submitter ⚠
- p.Pro503Ser Single submitter ⚠
- p.Ser114Ala Single submitter ⚠
- p.Ser174Tyr Single submitter ⚠
- p.Ser217Arg Single submitter ⚠
- p.Ser273Phe Single submitter ⚠
- p.Ser374Phe Single submitter ⚠
- p.Ser408Ter Single submitter
- p.Ter523Ser Single submitter
- p.Thr138Ile Single submitter ⚠
- p.Thr226Pro Single submitter ⚠
- p.Thr301Ala Single submitter ⚠
- p.Thr306Ala Single submitter ⚠
- p.Thr346Ala Single submitter ⚠
- p.Thr376Ser Single submitter ⚠
- p.Trp154Arg Single submitter ⚠
- p.Tyr401Phe Single submitter ⚠
- p.Tyr401Ser Single submitter ⚠
- p.Val188Leu Single submitter ⚠
- p.Val254Met Single submitter ⚠
- p.Val390Ile Single submitter ⚠
- p.Val394Met Single submitter ⚠
- p.Val402Met Single submitter ⚠
- p.Arg329Ter No assertion criteria PLIN1-related disorder
- p.Cys150Trp No assertion criteria PLIN1-related disorder ⚠